R108L (p.Arg108Leu) variant of F13A1 (Coagulation factor XIII A chain)
R108L (p.Arg108Leu) in F13A1 (Coagulation factor XIII A chain) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
R108L (p.Arg108Leu) variant details
- p.Arg108Leu
- ESP rs145761347
- ExAC rs145761347
- TOPMed rs145761347
- gnomAD rs145761347
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.31
- MetaLR 0.35
- MetaSVM -0.53
- CADD 20.90
- PolyPhen-2 0.00
- SIFT 0.11
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available